Table 10.

Propionic Acidemia: Recommended Surveillance

System/ConcernEvaluationFrequency/Comment
Growth
  • Measurement of weight, length, & head circumference
  • Eval of nutritional status & safety of oral intake 1
At each visit
Metabolic control 2
  • Plasma ammonia
  • Quantitative plasma acylcarnitine profile
  • Electrolytes & venous blood gas
  • Urinary ketones, plasma lactic acid, & 2-methylcitric acid 3
As clinically indicated
Nutritional eval
  • Plasma amino acids (esp isoleucine, leucine, valine, threonine, & methionine) collected 2 hrs after last typical meal
  • Plasma free & total carnitine
Nutritional deficiencies
  • Mineral panel (calcium, phosphorus)
  • Hemoglobin &/or CBC 4
  • Vitamin D
  • Iron studies
  • Essential fatty acids
  • Trace minerals (selenium & zinc)
Kidney function
  • Plasma creatinine
  • Serum cystatin C may be more sensitive than plasma creatinine to identify chronic kidney disease.
At least annually
Delayed acquisition of developmental milestones Monitor developmental milestonesAt each visit
  • Neuropsychological testing using age-appropriate standardized assessment batteries
  • Standardized quality-of-life assessment tools for affected persons & parents/caregivers
As needed
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & movement disorders.
At each visit
Pancreatitis Amylase & lipaseAs clinically indicated
Cardiovascular Monitor for clinical signs of heart disease (e.g., tachycardia, tachypnea, syncope, shortness of breathy, exercise intolerance, chest pain, hepatomegaly)At each visit
Echocardiogram, EKG, & 24-hr Holter or other ambulatory monitor 5Annually or as clinically indicated
Integumentary Eval of skin, hair, gastrostomy tube, & central line insertion sitesAt each visit
Eyes Ophthalmology eval, incl dilated eye exam 6Annually or as clinically indicated
Hearing Audiology eval
Musculoskeletal DXA scanPeriodically starting in adolescence
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

CBC = complete blood count; DXA = dual-energy x-ray absorptiometry

1.

This should also include interval assessment for the need for a gastrostomy tube in those who do not already have one.

2.

The following evaluations are performed at different intervals depending on factors such as age, disease severity, and presence of catabolic stressors; evaluation frequency can range from every three months to annually.

3.

To monitor and adjust nutritional management

4.

To monitor for cytopenias

5.

To screen for cardiomyopathy and arrythmia

6.

To assess for optic nerve and retinal changes

From: Propionic Acidemia

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